Variant report

Variant	rs72971710
Chromosome Location	chr1:74952894-74952895
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74949493..74951450-chr1:74951854..74954172,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10493542	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095376	0.95[ASN][1000 genomes]
rs17095380	1.00[ASN][1000 genomes]
rs17095385	1.00[ASN][1000 genomes]
rs17095421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095449	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17095451	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17095455	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17095460	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17095463	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17095465	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17095473	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17095482	0.85[ASN][1000 genomes]
rs17095483	0.85[ASN][1000 genomes]
rs1998770	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998771	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34871290	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3737564	0.95[ASN][1000 genomes]
rs3737566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819944	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4372202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45519034	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45545234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs45587936	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs45609532	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61140856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701139	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6704493	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72969868	1.00[ASN][1000 genomes]
rs72977490	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7416565	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9326113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9727476	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9729683	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74932400-74953600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:74947400-74953800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:74947800-74953600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:74948000-74959000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:74950200-74954000	Enhancers	Fetal Heart	heart
6	chr1:74951200-74969800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:74951400-74955600	Weak transcription	Right Ventricle	heart
8	chr1:74951800-74953800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:74952000-74953600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:74952000-74953600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:74952800-74956200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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